Canonical Allele Identifier: CA2607410431
Gene: MREG HGNC NCBI
PECR HGNC NCBI

Linked Data

dbSNP Id: rs1056467791
gnomAD v3: 2-216028984-C-G
gnomAD v4: 2-216028984-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028984C>G , CM000664.2:g.216028984C>G GRCh38
NC_000002.11:g.216893707C>G , CM000664.1:g.216893707C>G GRCh37
NC_000002.10:g.216601952C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3805G>C (MREG) ENSP00000404470.1:n.-68+3805G>C
ENST00000424992.5:c.-68+4978G>C (MREG) ENSP00000413302.1:n.-68+4978G>C
ENST00000439791.5:c.-68+4699G>C (MREG) ENSP00000411076.1:n.-68+4699G>C
ENST00000442122.5:c.*440+10207G>C (PECR) ENSP00000395512.1:n.*440+10207G>C
NM_001372189.1:c.-68+4978G>C (MREG) NP_001359118.1:n.-68+4978G>C
NM_001372190.1:c.-68+4699G>C (MREG) NP_001359119.1:n.-68+4699G>C
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